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Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis.
Chang Gung Med J 2004; 27(2):129-33CG

Abstract

Multiple carboxylase deficiency (MCD) is a rare inherited metabolic disease of biotin dependency due to deficiency of holocarboxylase synthetase (HCS) or biotinidase deficiency. A 30-month-old female patient who presented with the initial features of diabetic ketoacidosis (severe metabolic acidosis, ketosis, and hyperglycemia), lactic acidemia, moderate hyperammonemia, and generalized organic aciduria is described. Associated symptoms and signs included erythematous skin rashes, alopecia and developmental delay. The patient responded dramatically to treatment with biotin (10 mg/day) showing normalization of clinical symptoms and most biochemical abnormalities. Based on the urine organic profile by gas chromatography/ mass spectrometry (GC/MS), the diagnosis of MCD was made. A plasma tandem mass study confirmed this diagnosis. The biotinase activity in serum was normal, indicating that this was a rare case of late-onset HCS deficiency.

Authors+Show Affiliations

Division of Medical Genetics, Department of Pediatrics, Chang Gung Children's Hospital, Taipei, Taiwan 333, ROC. houjw741@cgmh.org.tw

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

15095958

Citation

Hou, Jia-Woei. "Biotin Responsive Multiple Carboxylase Deficiency Presenting as Diabetic Ketoacidosis." Chang Gung Medical Journal, vol. 27, no. 2, 2004, pp. 129-33.
Hou JW. Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis. Chang Gung Med J. 2004;27(2):129-33.
Hou, J. W. (2004). Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis. Chang Gung Medical Journal, 27(2), pp. 129-33.
Hou JW. Biotin Responsive Multiple Carboxylase Deficiency Presenting as Diabetic Ketoacidosis. Chang Gung Med J. 2004;27(2):129-33. PubMed PMID: 15095958.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis. A1 - Hou,Jia-Woei, PY - 2004/4/21/pubmed PY - 2004/5/15/medline PY - 2004/4/21/entrez SP - 129 EP - 33 JF - Chang Gung medical journal JO - Chang Gung Med J VL - 27 IS - 2 N2 - Multiple carboxylase deficiency (MCD) is a rare inherited metabolic disease of biotin dependency due to deficiency of holocarboxylase synthetase (HCS) or biotinidase deficiency. A 30-month-old female patient who presented with the initial features of diabetic ketoacidosis (severe metabolic acidosis, ketosis, and hyperglycemia), lactic acidemia, moderate hyperammonemia, and generalized organic aciduria is described. Associated symptoms and signs included erythematous skin rashes, alopecia and developmental delay. The patient responded dramatically to treatment with biotin (10 mg/day) showing normalization of clinical symptoms and most biochemical abnormalities. Based on the urine organic profile by gas chromatography/ mass spectrometry (GC/MS), the diagnosis of MCD was made. A plasma tandem mass study confirmed this diagnosis. The biotinase activity in serum was normal, indicating that this was a rare case of late-onset HCS deficiency. SN - 2072-0939 UR - https://www.unboundmedicine.com/medline/citation/15095958/Biotin_responsive_multiple_carboxylase_deficiency_presenting_as_diabetic_ketoacidosis_ L2 - http://cgmj.cgu.edu.tw/2702/270207.pdf DB - PRIME DP - Unbound Medicine ER -